title: Recurrent mutation 4882delTT in the GAP-related domain of the tuberous sclerosis TSC2 gene.
authors.affiliation: Department of Clinical Genetics, Erasmus University Hospital Rotterdam, The Netherlands.
authors.forename: S
authors.initials: S
authors.lastname: Verhoef
authors.forename: R
authors.initials: R
authors.lastname: Vrtel
authors.forename: L
authors.initials: L
authors.lastname: Bakker
authors.forename: I
authors.initials: I
authors.lastname: Stolte-Dijkstra
authors.forename: M
authors.initials: M
authors.lastname: Nellist
authors.forename: J H
authors.initials: JH
authors.lastname: Begeer
authors.forename: J
authors.initials: J
authors.lastname: Zaremba
authors.forename: S
authors.initials: S
authors.lastname: Jozwiak
authors.forename: A M
authors.initials: AM
authors.lastname: Tempelaars
authors.forename: D
authors.initials: D
authors.lastname: Lindhout
authors.forename: D J
authors.initials: DJ
authors.lastname: Halley
authors.forename: A M
authors.initials: AM
authors.lastname: van den Ouweland
mesh_terms: D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D020690:GTPase-Activating Proteins; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D018807:Polymorphism, Single-Stranded Conformational; D017434:Protein Structure, Tertiary; D011506:Proteins / Q000235:genetics*; D012097:Repressor Proteins / Q000737:chemistry / Q000235:genetics*; D017384:Sequence Deletion; D014402:Tuberous Sclerosis / Q000235:genetics*; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins
chemical_list: D020690:GTPase-Activating Proteins; D011506:Proteins; D012097:Repressor Proteins; C000624653:TSC2 protein, human; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins; D004247:DNA